LDS5
MCID: LYS020
MIFTS: 50

Loeys-Dietz Syndrome 5 (LDS5)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Loeys-Dietz Syndrome 5

MalaCards integrated aliases for Loeys-Dietz Syndrome 5:

Name: Loeys-Dietz Syndrome 5 57 11 73 14
Rienhoff Syndrome 57 19 73 28 5 16 71
Lds5 57 11 73
Rnhf 57 11 73
Loeys-Dietz Syndrome, Type 5 38
Reinhoff Syndrome 11

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
autoimmune manifestations are present in some patients


Classifications:



Summaries for Loeys-Dietz Syndrome 5

GARD: 19 Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.

MalaCards based summary: Loeys-Dietz Syndrome 5, also known as rienhoff syndrome, is related to pulsating exophthalmos and multiple self-healing squamous epithelioma. An important gene associated with Loeys-Dietz Syndrome 5 is TGFB3 (Transforming Growth Factor Beta 3), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. Affiliated tissues include skin, heart and artery-aorta, and related phenotypes are ptosis and high palate

OMIM®: 57 Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see 609192), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by Bertoli-Avella et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 (609192). (615582) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 A form of Loeys-Dietz syndrome, a syndrome with widespread systemic involvement characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. LDS5 additional variable features include mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity. LDS5 patients do not manifest remarkable aortic or arterial tortuosity, and there is no strong evidence for early aortic dissection.

Disease Ontology: 11 A Loeys-Dietz syndrome that has material basis in heterozygous mutation in the TGFB3 gene on chromosome 14q24.

Related Diseases for Loeys-Dietz Syndrome 5

Diseases in the Loeys-Dietz Syndrome family:

Loeys-Dietz Syndrome 1 Loeys-Dietz Syndrome 2
Loeys-Dietz Syndrome 3 Loeys-Dietz Syndrome 4
Loeys-Dietz Syndrome 5 Loeys-Dietz Syndrome 6

Diseases related to Loeys-Dietz Syndrome 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 pulsating exophthalmos 10.1 TGFBR2 TGFBR1
2 multiple self-healing squamous epithelioma 10.1 TGFBR2 TGFBR1
3 cleft soft palate 10.1 TGFBR2 TGFB3
4 spastic paraplegia 76, autosomal recessive 10.1 TGFB3 TGFB2
5 tracheal stenosis 10.0 TGFB3 FBN1
6 ectopia lentis 2, isolated, autosomal recessive 10.0 TGFBR2 FBN1
7 ectopia lentis 1, isolated, autosomal dominant 10.0 TGFBR2 FBN1
8 phacogenic glaucoma 10.0 TGFB2 FBN1
9 camurati-engelmann disease 9.9 TGFBR2 TGFBR1 TGFB2
10 stickler syndrome, type i 9.9 SMAD3 FBN1
11 subclavian artery aneurysm 9.9 TGFBR2 TGFBR1 FBN1
12 mitochondrial dna depletion syndrome 12b 9.9 TGFBR2 TGFBR1 FBN1
13 aortic valve insufficiency 9.9 TGFBR2 TGFBR1 FBN1
14 contractural arachnodactyly, congenital 9.9 TGFBR2 TGFBR1 FBN1
15 collagen disease 9.9 TGFBR2 TGFBR1 FBN1
16 telangiectasis 9.9 TGFBR1 FBN1
17 cutis laxa, autosomal dominant 1 9.9 TGFBR2 TGFBR1 FBN1
18 bullous keratopathy 9.9 TGFB3 TGFB2 FBN1
19 inguinal hernia 9.9 TGFBR2 TGFBR1 FBN1
20 vitreous disease 9.8 TGFB2 SMAD2
21 autosomal dominant intellectual developmental disorder 19 9.8 SMAD3 SMAD2
22 peyronie's disease 9.8 SMAD3 SMAD2
23 cowden syndrome 6 9.7 SMAD3 SMAD2
24 vitreoretinopathy, neovascular inflammatory 9.7 TGFBR2 TGFB2
25 melorheostosis 9.7 SMAD3 SMAD2
26 tricuspid valve prolapse 9.7 TGFBR2 TGFBR1 TGFB3 FBN1
27 clear cell adenocarcinoma 9.7 SMAD3 SMAD2
28 osteochondrodysplasia 9.7 TGFB3 FBN1 B3GAT3
29 marfan syndrome 9.6 TGFBR2 TGFBR1 TGFB2 FBN1
30 ureteral disease 9.6 SMAD3 SMAD2
31 obstructive nephropathy 9.6 SMAD3 SMAD2
32 intraocular pressure quantitative trait locus 9.6 TGFB2 SMAD2 FBN1
33 myopia 9.6 TGFB3 TGFB2 FBN1
34 systemic scleroderma 9.5 SMAD3 SMAD2 FBN1
35 mitral valve disease 9.5 TGFBR2 TGFBR1 TGFB3 TGFB2 FBN1
36 cleft palate, isolated 9.5 TGFBR2 TGFBR1 TGFB3 TGFB2 FBN1
37 lipoprotein quantitative trait locus 9.5 TGFBR2 TGFB2 SMAD3 FBN1
38 cataract 9.5 TGFBR2 TGFBR1 TGFB3 TGFB2 FBN1
39 pulmonary hypertension 9.4 TGFBR2 TGFBR1 SMAD3 SMAD2
40 craniosynostosis 9.4 TGFBR2 TGFBR1 TGFB3 SMAD3 FBN1
41 adenocarcinoma 9.4 TGFBR2 TGFBR1 SMAD3 SMAD2
42 squamous cell carcinoma, head and neck 9.4 TGFBR2 TGFBR1 SMAD3 SMAD2
43 aortic dissection 9.4 TGFBR1 TGFB3 TGFB2 SMAD3 FBN1
44 loeys-dietz syndrome 2 9.3 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
45 arterial tortuosity syndrome 9.3 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
46 patent ductus arteriosus 1 9.3 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
47 aortic disease 9.3 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
48 osteoporosis 9.2 TGFBR1 TGFB2 SMAD3 SMAD2
49 dilated cardiomyopathy 9.2 TGFB3 SMAD3 SMAD2 FBN1
50 connective tissue disease 9.2 TGFBR2 SMAD3 SMAD2 FBN1

Graphical network of the top 20 diseases related to Loeys-Dietz Syndrome 5:



Diseases related to Loeys-Dietz Syndrome 5

Symptoms & Phenotypes for Loeys-Dietz Syndrome 5

Human phenotypes related to Loeys-Dietz Syndrome 5:

30 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 30 Very rare (1%) HP:0000508
2 high palate 30 Very rare (1%) HP:0000218
3 inguinal hernia 30 Very rare (1%) HP:0000023
4 hypertelorism 30 Very rare (1%) HP:0000316
5 pes planus 30 Very rare (1%) HP:0001763
6 smooth philtrum 30 Very rare (1%) HP:0000319
7 neonatal hypotonia 30 Very rare (1%) HP:0001319
8 short stature 30 Very rare (1%) HP:0004322
9 brachycephaly 30 Very rare (1%) HP:0000248
10 decreased muscle mass 30 Very rare (1%) HP:0003199
11 retrognathia 30 Very rare (1%) HP:0000278
12 failure to thrive in infancy 30 Very rare (1%) HP:0001531
13 pectus excavatum 30 Very rare (1%) HP:0000767
14 scapular winging 30 Very rare (1%) HP:0003691
15 talipes equinovarus 30 Very rare (1%) HP:0001762
16 kyphoscoliosis 30 Very rare (1%) HP:0002751
17 mitral regurgitation 30 Very rare (1%) HP:0001653
18 arachnodactyly 30 Very rare (1%) HP:0001166
19 joint hypermobility 30 Very rare (1%) HP:0001382
20 dolichocephaly 30 Very rare (1%) HP:0000268
21 downslanted palpebral fissures 30 Very rare (1%) HP:0000494
22 spondylolisthesis 30 Very rare (1%) HP:0003302
23 ascending aortic dissection 30 Very rare (1%) HP:0004933
24 overfolded helix 30 Very rare (1%) HP:0000396
25 long face 30 Very rare (1%) HP:0000276
26 proptosis 30 Very rare (1%) HP:0000520
27 prominent nasal bridge 30 Very rare (1%) HP:0000426
28 ventricular septal defect 30 Very rare (1%) HP:0001629
29 nevus flammeus 30 Very rare (1%) HP:0001052
30 bruising susceptibility 30 Very rare (1%) HP:0000978
31 osteoarthritis 30 Very rare (1%) HP:0002758
32 flexion contracture of toe 30 Very rare (1%) HP:0005830
33 blue sclerae 30 Very rare (1%) HP:0000592
34 midface retrusion 30 Very rare (1%) HP:0011800
35 tented upper lip vermilion 30 Very rare (1%) HP:0010804
36 hiatus hernia 30 Very rare (1%) HP:0002036
37 bifid uvula 30 Very rare (1%) HP:0000193
38 congenital finger flexion contractures 30 Very rare (1%) HP:0005879
39 delayed gross motor development 30 Very rare (1%) HP:0002194
40 aortic root aneurysm 30 Very rare (1%) HP:0002616
41 long palpebral fissure 30 Very rare (1%) HP:0000637
42 overhanging nasal tip 30 Very rare (1%) HP:0011833
43 overgrowth 30 Very rare (1%) HP:0001548
44 patent foramen ovale 30 Very rare (1%) HP:0001655
45 reduced subcutaneous adipose tissue 30 Very rare (1%) HP:0003758
46 broad face 30 Very rare (1%) HP:0000283
47 bilateral coxa valga 30 Very rare (1%) HP:0010665
48 cervical spine instability 30 Very rare (1%) HP:0010646
49 pectus carinatum 30 HP:0000768
50 increased arm span 30 HP:0012771

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Abdomen External Features:
inguinal hernia

Chest External Features:
pectus carinatum
pectus excavatum

Head And Neck Mouth:
cleft palate
bifid uvula
high-arched palate

Skeletal Hands:
arachnodactyly
bilateral contractures of fingers (rare)
palmar flexion, transient postnatal (rare)

Growth Height:
tall stature
short stature (rare)

Cardiovascular Heart:
ventricular septal defect (rare)
atrial septal defect (rare)
mitral insufficiency
aortic insufficiency, mild (rare)
patent foramen ovale (rare)
more
Cardiovascular Vascular:
aortic root dilation
aneurysm of abdominal aorta
varices
aneurysm of thoracic aorta
aneurysmal dissection or rupture
more
Growth Weight:
low birth weight (in some patients)

Skeletal Skull:
dolichocephaly (in some patients)
brachycephaly (rare)
metopic ridge, small (rare)

Growth Other:
growth retardation (rare)

Skeletal:
osteoarthritis, early onset (in some patients)

Muscle Soft Tissue:
subcutaneous fat markedly reduced (in some patients)
decreased muscle mass (in some patients)

Head And Neck Eyes:
hypertelorism
exotropia
ptosis (rare)
downslanting palpebral fissures (in some patients)
blue sclerae (in some patients)
more
Skeletal Feet:
pes planus
clubfeet (in some patients)
camptodactyly of toes (in some patients)
pes adductus, transient postnatal (rare)

Skeletal Spine:
kyphoscoliosis
spondylolisthesis (rare)
cervical spine instability (rare)

Skeletal Limbs:
joint hypermobility
increased arm span

Head And Neck Face:
retrognathia, mild
long face (in some patients)
smooth philtrum (rare)
wide face (rare)
midface hypoplasia (rare)

Chest Diaphragm:
hiatal hernia

Neurologic Central Nervous System:
delayed motor development (in some patients)
congenital hypotonia, mild (in some patients)
cerebral hemorrhage (rare)

Head And Neck Head:
dolichocephaly (in some patients)
brachycephaly (rare)
metopic ridge, small (rare)

Skin Nails Hair Skin:
easy bruising (in some patients)
thin translucent skin (in some patients)
soft velvety skin (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
scapulae alata (rare)

Skeletal Pelvis:
bilateral coxa valga (rare)

Clinical features from OMIM®:

615582 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Loeys-Dietz Syndrome 5 according to GeneCards Suite gene sharing:

25 (show all 34)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.19 SMAD2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.19 TGFB2 TGFBR1 TGFBR2 SMAD2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.19 TGFB2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.19 TGFBR2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.19 TGFBR2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.19 TGFB2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-14 10.19 TGFB2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.19 TGFBR1 TGFBR2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-162 10.19 TGFBR2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-165 10.19 TGFBR2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.19 TGFBR1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-172 10.19 SMAD2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-174 10.19 SMAD2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-186 10.19 TGFBR2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-188 10.19 TGFBR2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-196 10.19 TGFB2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-200 10.19 TGFBR1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-203 10.19 SMAD2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-205 10.19 SMAD2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.19 TGFB2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-22 10.19 TGFBR1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.19 SMAD2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.19 TGFBR1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-39 10.19 TGFBR2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.19 TGFB2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-48 10.19 TGFBR2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-59 10.19 TGFB2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-60 10.19 TGFB2 TGFBR1 TGFBR2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.19 TGFBR2
30 Increased shRNA abundance (Z-score > 2) GR00366-A-72 10.19 TGFB2
31 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.19 TGFB2
32 Increased shRNA abundance (Z-score > 2) GR00366-A-77 10.19 TGFBR1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.19 TGFBR1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-88 10.19 TGFBR1

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome 5:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.11 B3GAT3 FBN1 SMAD2 SMAD3 TGFB2 TGFB3
2 nervous system MP:0003631 10.08 FBN1 SMAD2 SMAD3 TGFB2 TGFB3 TGFBR1
3 embryo MP:0005380 10.02 FBN1 SMAD2 SMAD3 TGFB2 TGFB3 TGFBR1
4 cellular MP:0005384 10.01 B3GAT3 FBN1 SMAD2 SMAD3 TGFB2 TGFB3
5 craniofacial MP:0005382 9.98 FBN1 SMAD2 SMAD3 TGFB2 TGFB3 TGFBR1
6 endocrine/exocrine gland MP:0005379 9.97 FBN1 SMAD2 SMAD3 TGFB2 TGFBR1 TGFBR2
7 digestive/alimentary MP:0005381 9.93 SMAD2 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
8 limbs/digits/tail MP:0005371 9.92 B3GAT3 FBN1 SMAD3 TGFB2 TGFB3
9 cardiovascular system MP:0005385 9.91 FBN1 SMAD2 SMAD3 TGFB2 TGFB3 TGFBR1
10 immune system MP:0005387 9.87 FBN1 SMAD2 SMAD3 TGFB2 TGFB3 TGFBR1
11 skeleton MP:0005390 9.76 B3GAT3 FBN1 SMAD2 SMAD3 TGFB2 TGFB3
12 respiratory system MP:0005388 9.73 FBN1 SMAD2 TGFB2 TGFB3 TGFBR1 TGFBR2
13 hematopoietic system MP:0005397 9.5 FBN1 SMAD2 SMAD3 TGFB2 TGFB3 TGFBR1
14 mortality/aging MP:0010768 9.23 B3GAT3 FBN1 SMAD2 SMAD3 TGFB2 TGFB3

Drugs & Therapeutics for Loeys-Dietz Syndrome 5

Search Clinical Trials, NIH Clinical Center for Loeys-Dietz Syndrome 5

Genetic Tests for Loeys-Dietz Syndrome 5

Genetic tests related to Loeys-Dietz Syndrome 5:

# Genetic test Affiliating Genes
1 Rienhoff Syndrome 28 TGFB3

Anatomical Context for Loeys-Dietz Syndrome 5

Organs/tissues related to Loeys-Dietz Syndrome 5:

MalaCards : Skin, Heart
ODiseA: Artery-Aorta, Artery, Heart-Atrium, Heart-Ventricle, Heart

Publications for Loeys-Dietz Syndrome 5

Articles related to Loeys-Dietz Syndrome 5:

# Title Authors PMID Year
1
Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. 57 5
25835445 2015
2
De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features. 57 5
24798638 2014
3
A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome. 57 5
23824657 2013
4
N-Cadherin, a cell adhesion molecule involved in establishment of embryonic left-right asymmetry. 57
10807574 2000
5
Rhinothermy delivered by nasal high flow therapy in the treatment of the common cold: a randomised controlled trial. 62
34848508 2021
6
Transforming Growth Factor Beta3 is Required for Cardiovascular Development. 62
32456345 2020
7
Homozygous deletion of exons 2-7 within TGFB3 gene in a child with severe Loeys-Dietz syndrome and Marfan-like features. 62
32022420 2020
8
Protocol for a randomised, single-blind, two-arm, parallel-group controlled trial of the efficacy of rhinothermy delivered by nasal high flow therapy in the treatment of the common cold. 62
31221888 2019
9
Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome. 62
26184463 2015
10
Midterm outcome of valve-sparing aortic root replacement in inherited connective tissue disorders. 62
22051261 2011

Variations for Loeys-Dietz Syndrome 5

ClinVar genetic disease variations for Loeys-Dietz Syndrome 5:

5 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TGFB3 NM_003239.5(TGFB3):c.1226G>A (p.Cys409Tyr) SNV Pathogenic
91862 rs398122984 GRCh37: 14:76425543-76425543
GRCh38: 14:75959200-75959200
2 TGFB3 NM_003239.5(TGFB3):c.754+2T>C SNV Pathogenic
203489 rs875989816 GRCh37: 14:76431929-76431929
GRCh38: 14:75965586-75965586
3 TGFB3 NM_003239.5(TGFB3):c.704del (p.Asn235fs) DEL Pathogenic
203491 rs875989817 GRCh37: 14:76431981-76431981
GRCh38: 14:75965638-75965638
4 TGFB3 NM_003239.5(TGFB3):c.787G>C (p.Asp263His) SNV Pathogenic
203492 rs796051886 GRCh37: 14:76429798-76429798
GRCh38: 14:75963455-75963455
5 TGFB3 NM_003239.5(TGFB3):c.321dup (p.Phe108fs) DUP Pathogenic
441282 rs1555361385 GRCh37: 14:76446915-76446916
GRCh38: 14:75980572-75980573
6 TGFB3 NM_003239.5(TGFB3):c.899G>A (p.Arg300Gln) SNV Pathogenic
143945 rs587777617 GRCh37: 14:76429686-76429686
GRCh38: 14:75963343-75963343
7 TGFB3 NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp) SNV Pathogenic
203490 rs796051885 GRCh37: 14:76429687-76429687
GRCh38: 14:75963344-75963344
8 TGFB3 NM_003239.5(TGFB3):c.1195G>T (p.Glu399Ter) SNV Likely Pathogenic
449918 rs1555360027 GRCh37: 14:76425574-76425574
GRCh38: 14:75959231-75959231
9 TGFB3 NM_003239.5(TGFB3):c.927-1G>C SNV Likely Pathogenic
Likely Pathogenic
487471 rs767548724 GRCh37: 14:76427420-76427420
GRCh38: 14:75961077-75961077
10 TGFB3 NM_003239.5(TGFB3):c.464G>A (p.Arg155Gln) SNV Uncertain Significance
575813 rs925224125 GRCh37: 14:76437950-76437950
GRCh38: 14:75971607-75971607
11 TGFB3 NM_003239.5(TGFB3):c.161C>T (p.Thr54Ile) SNV Uncertain Significance
1698940 GRCh37: 14:76447076-76447076
GRCh38: 14:75980733-75980733
12 TGFB3 NM_003239.5(TGFB3):c.919T>C (p.Cys307Arg) SNV Uncertain Significance
931333 rs2035180317 GRCh37: 14:76429666-76429666
GRCh38: 14:75963323-75963323
13 TGFB3 NM_003239.5(TGFB3):c.412T>G (p.Ser138Ala) SNV Uncertain Significance
239520 rs201453600 GRCh37: 14:76438002-76438002
GRCh38: 14:75971659-75971659
14 TGFB3 NM_003239.5(TGFB3):c.965T>C (p.Ile322Thr) SNV Uncertain Significance
410276 rs762643638 GRCh37: 14:76427381-76427381
GRCh38: 14:75961038-75961038
15 TGFB3 NM_003239.5(TGFB3):c.1190A>G (p.Lys397Arg) SNV Uncertain Significance
931529 rs2035122885 GRCh37: 14:76425579-76425579
GRCh38: 14:75959236-75959236
16 TGFB3 NM_003239.5(TGFB3):c.1040C>T (p.Pro347Leu) SNV Uncertain Significance
1465026 GRCh37: 14:76427306-76427306
GRCh38: 14:75960963-75960963
17 TGFB3 NM_003239.5(TGFB3):c.335A>G (p.Gln112Arg) SNV Not Provided
1002091 rs2035412849 GRCh37: 14:76446902-76446902
GRCh38: 14:75980559-75980559

UniProtKB/Swiss-Prot genetic disease variations for Loeys-Dietz Syndrome 5:

73
# Symbol AA change Variation ID SNP ID
1 TGFB3 p.Cys409Tyr VAR_070924 rs398122984

Expression for Loeys-Dietz Syndrome 5

Search GEO for disease gene expression data for Loeys-Dietz Syndrome 5.

Pathways for Loeys-Dietz Syndrome 5

Pathways related to Loeys-Dietz Syndrome 5 according to GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.67 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
2 13.63 FBN1 SMAD2 SMAD3 TGFB2 TGFB3 TGFBR1
3
Show member pathways
13.54 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
4
Show member pathways
13.39 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
5
Show member pathways
13.39 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
6
Show member pathways
13.26 FBN1 TGFB2 TGFB3 TGFBR1 TGFBR2
7
Show member pathways
13.16 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
8
Show member pathways
12.92 TGFBR1 TGFB3 TGFB2 FBN1
9
Show member pathways
12.82 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
10
Show member pathways
12.81 TGFBR2 TGFBR1 TGFB3 TGFB2
11
Show member pathways
12.75 TGFBR2 TGFBR1 TGFB3 TGFB2
12
Show member pathways
12.72 TGFBR2 TGFBR1 SMAD3 SMAD2
13
Show member pathways
12.7 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
14
Show member pathways
12.51 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
15
Show member pathways
12.39 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
16 12.36 TGFBR2 TGFBR1 TGFB3 TGFB2
17
Show member pathways
12.3 TGFBR2 TGFBR1 SMAD3
18 12.27 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
19
Show member pathways
12.26 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
20
Show member pathways
12.22 TGFB3 TGFB2 SMAD3 SMAD2
21 12.22 SMAD2 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
22 12.18 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
23
Show member pathways
12.11 TGFB3 TGFB2 FBN1
24 12.1 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
25 12.06 TGFBR2 TGFBR1 SMAD2
26
Show member pathways
12.05 TGFBR2 TGFBR1 SMAD3
27
Show member pathways
12.05 FBN1 SMAD2 SMAD3 TGFBR1 TGFBR2
28 11.99 TGFBR1 SMAD3 SMAD2
29
Show member pathways
11.9 SMAD2 SMAD3 TGFBR1 TGFBR2
30
Show member pathways
11.83 TGFB2 SMAD3 SMAD2
31 11.83 SMAD2 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
32 11.81 TGFBR1 TGFB3 TGFB2
33 11.8 TGFB3 TGFB2 SMAD3 FBN1
34 11.78 TGFBR2 TGFBR1 SMAD3 SMAD2
35
Show member pathways
11.76 TGFB3 TGFB2 FBN1
36 11.75 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
37
Show member pathways
11.62 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
38 11.61 TGFBR2 TGFBR1 TGFB3 SMAD3 SMAD2
39
Show member pathways
11.59 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
40 11.53 TGFBR2 TGFBR1 TGFB2
41 11.52 TGFBR2 TGFB3 TGFB2
42 11.48 TGFBR1 SMAD3
43 11.4 TGFBR1 SMAD3
44 11.38 TGFB3 SMAD3 SMAD2
45 11.36 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
46 11.35 TGFBR1 SMAD3
47 11.33 TGFBR2 FBN1
48
Show member pathways
11.33 TGFBR2 TGFBR1 SMAD3 SMAD2
49 11.32 SMAD3 SMAD2
50
Show member pathways
11.29 TGFB3 TGFB2

GO Terms for Loeys-Dietz Syndrome 5

Cellular components related to Loeys-Dietz Syndrome 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heteromeric SMAD protein complex GO:0071144 9.46 SMAD3 SMAD2
2 SMAD protein complex GO:0071141 9.26 SMAD3 SMAD2
3 transforming growth factor beta ligand-receptor complex GO:0070021 8.92 TGFBR2 TGFBR1

Biological processes related to Loeys-Dietz Syndrome 5 according to GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell population proliferation GO:0008284 10.32 TGFBR2 TGFBR1 TGFB3 TGFB2
2 negative regulation of cell population proliferation GO:0008285 10.26 TGFBR2 TGFB3 TGFB2 SMAD3 SMAD2
3 response to hypoxia GO:0001666 10.2 TGFBR2 TGFB3 TGFB2 SMAD3
4 in utero embryonic development GO:0001701 10.19 TGFBR2 TGFBR1 TGFB3 SMAD3 SMAD2
5 regulation of cell population proliferation GO:0042127 10.18 TGFBR2 TGFB3 TGFB2
6 anatomical structure morphogenesis GO:0009653 10.18 SMAD3 SMAD2 FBN1
7 heart development GO:0007507 10.16 TGFBR2 TGFBR1 TGFB2 SMAD2 FBN1
8 cellular response to transforming growth factor beta stimulus GO:0071560 10.12 TGFBR1 SMAD3 FBN1
9 skeletal system development GO:0001501 10.12 TGFBR1 TGFB2 SMAD3 FBN1
10 positive regulation of stress fiber assembly GO:0051496 10.1 TGFBR1 TGFB3 SMAD3
11 kidney development GO:0001822 10.09 TGFBR1 TGFB2 FBN1
12 SMAD protein signal transduction GO:0060395 10.08 TGFB3 TGFB2 SMAD3 SMAD2
13 ventricular septum morphogenesis GO:0060412 10.07 TGFB2 TGFBR1 TGFBR2
14 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 10.03 TGFBR2 TGFBR1 TGFB3 TGFB2
15 digestive tract development GO:0048565 10.02 TGFBR2 TGFB3
16 cell-cell junction organization GO:0045216 10.02 TGFB3 TGFB2 SMAD3
17 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 10.01 SMAD3 SMAD2
18 outflow tract septum morphogenesis GO:0003148 10.01 TGFBR2 TGFB2
19 adrenal gland development GO:0030325 10.01 SMAD3 SMAD2
20 signal transduction involved in regulation of gene expression GO:0023019 10.01 SMAD2 SMAD3
21 BMP signaling pathway GO:0030509 10.01 SMAD2 SMAD3 TGFB2 TGFB3
22 positive regulation of SMAD protein signal transduction GO:0060391 10 TGFBR1 TGFB3
23 pathway-restricted SMAD protein phosphorylation GO:0060389 10 TGFBR2 TGFBR1 TGFB2
24 cardiac epithelial to mesenchymal transition GO:0060317 9.99 TGFBR1 TGFB2
25 ventricular trabecula myocardium morphogenesis GO:0003222 9.99 TGFBR1 TGFB2
26 primary miRNA processing GO:0031053 9.98 SMAD3 SMAD2
27 atrioventricular valve morphogenesis GO:0003181 9.98 TGFB2 TGFBR2
28 gastrulation GO:0007369 9.98 SMAD2 SMAD3 TGFBR2
29 negative regulation of macrophage cytokine production GO:0010936 9.97 TGFB3 TGFB2
30 nodal signaling pathway GO:0038092 9.97 SMAD3 SMAD2
31 pericardium development GO:0060039 9.97 SMAD3 SMAD2
32 embryonic cranial skeleton morphogenesis GO:0048701 9.97 TGFBR2 TGFBR1 SMAD3 SMAD2
33 embryonic foregut morphogenesis GO:0048617 9.96 SMAD3 SMAD2
34 membranous septum morphogenesis GO:0003149 9.96 TGFBR2 TGFB2
35 salivary gland morphogenesis GO:0007435 9.96 TGFB2 TGFB3
36 SMAD protein complex assembly GO:0007183 9.95 SMAD3 SMAD2
37 common-partner SMAD protein phosphorylation GO:0007182 9.95 TGFBR2 SMAD2
38 endocardial cushion fusion GO:0003274 9.93 TGFB2 TGFBR2
39 response to cholesterol GO:0070723 9.93 SMAD2 TGFBR1 TGFBR2
40 transforming growth factor beta receptor signaling pathway GO:0007179 9.93 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
41 regulation of binding GO:0051098 9.92 SMAD3 SMAD2
42 regulation of transforming growth factor beta2 production GO:0032909 9.92 TGFB2 SMAD3
43 activin receptor signaling pathway GO:0032924 9.92 TGFBR2 TGFBR1 SMAD3 SMAD2
44 positive regulation of tight junction disassembly GO:1905075 9.91 TGFBR1 TGFB3
45 embryonic pattern specification GO:0009880 9.9 SMAD3 SMAD2
46 endoderm development GO:0007492 9.89 SMAD3 SMAD2
47 developmental growth GO:0048589 9.89 SMAD2 SMAD3
48 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.88 TGFBR2 TGFBR1 TGFB2
49 paraxial mesoderm morphogenesis GO:0048340 9.87 SMAD3 SMAD2
50 uterine wall breakdown GO:0042704 9.86 TGFB3 TGFB2

Molecular functions related to Loeys-Dietz Syndrome 5 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta binding GO:0050431 9.88 TGFBR2 TGFBR1 TGFB3
2 I-SMAD binding GO:0070411 9.85 TGFBR1 SMAD3 SMAD2
3 R-SMAD binding GO:0070412 9.81 SMAD3 SMAD2
4 activin binding GO:0048185 9.8 TGFBR2 TGFBR1
5 type I transforming growth factor beta receptor binding GO:0034713 9.8 SMAD2 TGFB3 TGFBR2
6 co-SMAD binding GO:0070410 9.78 SMAD3 SMAD2
7 transforming growth factor beta receptor activity GO:0005024 9.73 TGFBR2 TGFBR1
8 type II transforming growth factor beta receptor binding GO:0005114 9.73 TGFBR1 TGFB3 TGFB2
9 SMAD binding GO:0046332 9.7 TGFBR2 TGFBR1 SMAD3 SMAD2
10 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.63 TGFBR2 TGFBR1
11 type III transforming growth factor beta receptor binding GO:0034714 9.35 TGFBR2 TGFB3 TGFB2
12 transforming growth factor beta receptor binding GO:0005160 9.17 TGFB3 TGFB2 SMAD3 SMAD2

Sources for Loeys-Dietz Syndrome 5

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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